MCF2 (MCF.2 cell line derived transforming sequence)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4168
• Gene name: MCF.2 cell line derived transforming sequence
• Gene symbol: MCF2
• Synonyms (NCBI Gene): ARHGEF21, DBL
• Chromosome: X
• Chromosome location: Xq27.1
• Summary: The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These

miRNA Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1136790	hsa-miR-1253	CLIP-seq
MIRT1136791	hsa-miR-1301	CLIP-seq
MIRT1136792	hsa-miR-192	CLIP-seq
MIRT1136793	hsa-miR-215	CLIP-seq
MIRT1136794	hsa-miR-3160-3p	CLIP-seq
MIRT1136795	hsa-miR-4251	CLIP-seq
MIRT1136796	hsa-miR-4487	CLIP-seq
MIRT1136797	hsa-miR-450b-5p	CLIP-seq
MIRT1136798	hsa-miR-4514	CLIP-seq
MIRT1136799	hsa-miR-4662a-5p	CLIP-seq
MIRT1136800	hsa-miR-4690-5p	CLIP-seq
MIRT1136801	hsa-miR-4692	CLIP-seq
MIRT1136802	hsa-miR-5047	CLIP-seq
MIRT1136803	hsa-miR-507	CLIP-seq
MIRT1136804	hsa-miR-557	CLIP-seq
MIRT1136805	hsa-miR-558	CLIP-seq
MIRT1136806	hsa-miR-940	CLIP-seq
MIRT1136794	hsa-miR-3160-3p	CLIP-seq
MIRT1136796	hsa-miR-4487	CLIP-seq
MIRT2568329	hsa-miR-556-5p	CLIP-seq
MIRT1136805	hsa-miR-558	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	18470881
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS	3281159
GO:0005856	Component	Cytoskeleton	TAS	3056717
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	3281159
GO:0016358	Process	Dendrite development	IBA
GO:0016358	Process	Dendrite development	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0050771	Process	Negative regulation of axonogenesis	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 311030
• HGNC: 6940
• e!Ensembl: ENSG00000101977

Protein

• UniProt ID: P10911
• Protein name: Proto-oncogene DBL (Proto-oncogene MCF-2) [Cleaved into: MCF2-transforming protein; DBL-transforming protein]
• Protein function: Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	695 → 809	PH domain	Domain
  PF00621	RhoGEF	499 → 673	RhoGEF domain	Domain
  PF13716	CRAL_TRIO_2	6 → 89	Divergent CRAL/TRIO domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed only in brain. Isoform 3 is expressed in heart, kidney, spleen, liver and testis. Isoform 4 is expressed in brain, heart, kidney, testis, placenta, stomach and peripheral blood. The protein is detectable in brain
• Sequence:

  MAEANPRRGKMRFRRNAASFPGNLHLVLVLRPTSFLQRTFTDIGFWFSQEDFMLKLPVVM
  LSSVSDLLTYIDDKQLTPELGGTLQYCHSEWIIFRNAIENFALTVKEMAQMLQSFGTELA
  ETELPDDIPSIEEILAIRAERYHLLKNDITAVTKEGKILLTNLEVPDTEGAVSSRLECHR
  QISGDWQTINKLLTQVHDMETAFDGFWEKHQLKMEQYLQLWKFEQDFQQLVTEVEFLLNQ
  QAELADVTGTIAQVKQKIKKLENLDENSQELLSKAQFVILHGHKLAANHHYALDLICQRC
  NELRYLSDILVNEIKAKRIQLSRTFKMHKLLQQARQCCDEGECLLANQEIDKFQSKEDAQ
  KALQDIENFLEMALPFINYEPETLQYEFDVILSPELKVQMKTIQLKLENIRSIFENQQAG
  FRNLADKHVRPIQFVVPTPENLVTSGTPFFSSKQGKKTWRQNQSNLKIEVVPDCQEKRSS
  GPSSSLDNGNSLDVLKNHVLNELIQTERVYVRELYTVLLGYRAEMDNPEMFDLMPPLLRN
  KKDILFGNMAEIYEFHNDIFLSSLENCAHAPERVGPCFLERKDDFQMYAKYCQNKPRSET
  IWRKYSECAFFQECQRKLKHRLRLDSYLLKPVQRITKYQLLLKELLKYSKDCEGSALLKK
  ALDAMLDLLKSVNDSMHQIAINGYIGNLNELGKMIMQGGFSVWIGHKKGATKMKDLARFK
  PMQRHLFLYEKAIVFCKRRVESGEGSDRYPSYSFKHCWKMDEVGITEYVKGDNRKFEIWY
  GEKEEVYIVQASNVDVKMTWLKEIRNILLKQQELLTVKKRKQQDQLTERDKFQISLQQND
  EKQQGAFISTEETELEHTSTVVEVCEAIASVQAEANTVWTEASQSAEISEEPAEWSSNYF
  YPTYDENEEENRPLMRPVSEMALLY

• Sequence length: 925

Pathways

Reactome Pathway

Axonal growth inhibition (RHOA activation)

NRAGE signals death through JNK

Rho GTPase cycle

G alpha (12/13) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Failure to thrive	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	3281159		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	BEFREE	19373475		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	24367640	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	24367640, 29274998		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	31628896		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	2666909		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	19373475		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	2846283	Associate	★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism - X-linked	Hypoparathyroidism	BEFREE	15533723		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11373293	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29383183		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28472687		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31416844	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2666909		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	2666909		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30214196	Associate	★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	31846234		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ARHGEF33 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. NET1 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. FGD4 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. ARHGEF19 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. ECT2 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ARHGEF33	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
NET1	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
FGD4	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
ARHGEF19	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
ECT2	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]

Diseases Linked via Similar Genes

Cerebral atherosclerosis Linked via 1 of 5 related genesFGD4 Charcot-marie-tooth disease Linked via 1 of 5 related genesFGD4 Dejerine-sottas disease Linked via 1 of 5 related genesFGD4 Hereditary motor and sensory neuropathies Linked via 1 of 5 related genesFGD4 Hypertension Linked via 1 of 5 related genesFGD4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cerebral atherosclerosis	1	["FGD4"]
Charcot-marie-tooth disease	1	["FGD4"]
Dejerine-sottas disease	1	["FGD4"]
Hereditary motor and sensory neuropathies	1	["FGD4"]
Hypertension	1	["FGD4"]